Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

ABSTRACT:

Background

Many genes are candidates for involvement in epileptic encephalopathy (EE) because one or a few possibly pathogenic variants have been found in patients, but insufficient genetic or functional evidence exists for a definite annotation.

Methods

To increase the number of validated EE genes, we sequenced 26 known and 351 candidate genes for EE in 360 patients. Variants in 25 genes known to be involved in EE or related phenotypes were followed up in 41 patients. We prioritized the candidate genes, and followed up 31 variants in this prioritized subset of candidate genes.

Results

Twenty-nine genotypes in known genes for EE (19) or related diseases (10), dominant as well as recessive or X-linked, were classified as likely pathogenic variants. Among those, likely

SUBMITTER: de Kovel CG 

PROVIDER: S-EPMC5023942 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature